AIM: To describe clinical results and complications derived from vagal nerve stimulation therapy in drug resistant epileptic patients unsuitable for other surgical treatments, since the first implant in an epilepsy national referral centre. PATIENTS AND METHODS: A retrospective analysis of the patients implanted in our centre was held. Data related to baseline characteristics of their epilepsy and therapy complications was collected. RESULTS: 32 new implants in 31 patients are included, mean age of 34 years, 29...

A 37-old-male with a history of early childhood mental retardation was admitted to our hospital. He experienced recurrent syncopes at 23 years old, and at age 35 gait disturbance and hearing impairment developed gradually and worsened over time. His grandparents were in a consanguineous marriage. He was of short stature and absent of tendon xanthomas. Neurological examinations revealed scanning speech, dysphagia, right sensorineural hearing loss, spasticity in both upper and lower extremities, and spastic gait...

BACKGROUND: People with intellectual disabilities (IDs) die at younger ages than the general population, but nationally representative and internationally comparable mortality data about people with ID, quantifying the extent and pattern of the excess, have not previously been reported for England. METHOD: We used data from the Clinical Practice Research Datalink database for April 2010 to March 2014 (CPRD GOLD September 2015). This source covered several hundred participating general practices comprising roughly 5% of the population of England in the period studied...

BACKGROUND: People with severe or profound intellectual and motor disabilities (SPIMD) encounter several risk factors associated with higher mortality rates. They are also likely to experience a cluster of health problems related to the severe brain damage/dysfunction. In order to earlier detect physical health problems in people with SPIMD, first of all, knowledge regarding the prevalence of physical health problems is necessary. The aim of this systematic review was to methodically review cross-sectional studies on the prevalence of various types of physical health problems in adults with SPIMD...

The m.8344A>G mutation in the MTTK gene, which encodes the mitochondrial transfer RNA for lysine, is traditionally associated with myoclonic epilepsy and ragged-red fibres (MERRF), a multisystemic mitochondrial disease that is characterised by myoclonus, seizures, cerebellar ataxia, and mitochondrial myopathy with ragged-red fibres. We studied the clinical and paraclinical phenotype of 34 patients with the m.8344A>G mutation, mainly derived from the nationwide mitoREGISTER, the multicentric registry of the German network for mitochondrial disorders (mitoNET)...

In 2015, cerebral stimulation becomes increasingly established in the treatment of pharmacoresistant epilepsy. Efficacy of endovascular treatment has been demonstrated for acute ischemic stroke. Deep brain stimulation at low frequency improves dysphagia and freezing of gait in Parkinson patients. Bimagrumab seems to increase muscular volume and force in patients with inclusion body myositis. In cluster-type headache, a transcutaneous vagal nerve stimulator is efficient in stopping acute attacks and also reducing their frequency...

The purpose of this study was to determine whether transplantation of umbilical cord blood from unrelated donors before the development of symptoms could halt the progression of early juvenile onset cases of MLD in whom the disease was diagnosed based on the family history. Three asymptomatic children (aged 2 years 4 months, 2 years 8 months and 5 years 5 months, two of whom were sisters) underwent unrelated umbilical cord blood transplantation (UCBT) and two untreated symptomatic siblings were included in the study...

A 50-year-old man with a history of epilepsy controlled with phenytoin presented for evaluation of dysphagia. History revealed the patient was taking his phenytoin daily without water. Barium esophagram showed severe stricturing of the mid-esophagus. Upper endoscopy revealed diffuse gross mucosal abnormality with a thick stricture and occasional exudate. Biopsies were consistent with a drug-induced injury with lymphocytic infiltration and epithelial cell necrosis.

INTRODUCTION: Wolf Dietrich of Raitenau (WD) ruled the archiepiscopal Salzburg from March 2nd 1587 to December 17th 1611. He was condemned by his successor Archbishop Markus Sittikus of Hohenems to spend his last years imprisoned at the Fortress Hohensalzburg, where he died on January 16th 1617. This historical note describes the causes of his death. MATERIALS AND METHODS: The original Latin handwriting, including the detailed medical history and the autopsy of the Archbishop's body performed by his personal physician, was analyzed in conjunction with historical handwritings provided by St...

We encountered an adolescent male with cerebellar ataxia since age 11, difficulty in vertical gaze from age 2, leg weakness since age 10, and partial epilepsy since age 8. At age 14, he developed visual and auditory hallucinations, as well as mild sensorineural deafness. He was evaluated as having a mitochondrial disorder. No common mitochondrial DNA mutations were detected in the blood. Muscle biopsy revealed nonspecific changes and normal respiratory chain enzyme complexes. He developed progressive cognitive decline leading to diagnosis of dementia at age 15, and intractablepartial epilepsy persisted despite treatment with multiple anticonvulsants...

The literature data on using intravenous forms of AEDs that expand treatment possibilities for patients with epilepsy are presented. AEDs can be used in different situations, when patients are not able to take AEDs in per os. These situations can include seizure emergencies (recurrent seizures, clusters, status epilepticus), caused by disease decompensation; acute symptomatic seizures; perioperative preparation in the case of surgery; dysphagia; gastrointestinal problems; psychiatric disorders, and others. This article is based on a review of International and Russian expert consensus practice guidelines for management of clinical situations mentioned above...

OBJECT: Functional hemispherectomy is a well-recognized surgical option for the treatment of unihemispheric medically intractable epilepsy. While the resultant motor deficits are a well-known and expected consequence of the procedure, the impact on other cortical functions has been less well defined. As the cortical control of swallowing would appear to be threatened after hemispherectomy, the authors retrospectively studied a pediatric population that underwent functional hemispherectomy for medically intractable epilepsy to characterize the incidence and severity of dysphagia after surgery...

BACKGROUND: Community-acquired pneumonia (CAP) causes considerable morbidity and mortality in adults, particularly in the elderly. METHODS: Structured searches of PubMed were conducted to identify up-to-date information on the incidence of CAP in adults in Europe, as well as data on lifestyle and medical risk factors for CAP. RESULTS: The overall annual incidence of CAP in adults ranged between 1.07 to 1.2 per 1000 person-years and 1.54 to 1...

Vagus nerve stimulation (VNS) is an accepted therapy for the treatment of drug-resistant epilepsy. A new VNS system ("FitNeS"; manufactured by BioControl Medical (B.C.M.) Ltd., Yehud, Israel) was implanted in 5 patients with refractory focal epilepsy. The system is composed of a programmable pulse generator and a cuff electrode that is able to provide unidirectional stimulation, both of which are implanted in the left chest and in the neck, respectively. FitNeS is based on the CardioFit vagus nerve stimulation system, which is intended for the treatment of heart failure and which is currently in a randomized controlled phase III clinical trial...

Vagal nerve stimulators (VNS) are implanted to treat medically refractory epilepsy and depression. The VNS stimulates the vagus nerve in the left neck. Laryngeal side effects are common and include dysphagia, dysphonia, and dyspnea. The current case study represents a patient with severe dyspnea and dysphonia, persisting even with VNS deactivation. The case demonstrates the use of voice and respiratory retraining therapy for the treatment of VNS-induced dysphonia and dyspnea. It also highlights the importance of a multidisciplinary approach, including laryngology, neurology, and speech-language pathology, in the treatment of these challenging patients...

Two previously distinct leukodystrophies, pigmentary orthochromatic leukodystrophy and hereditary diffuse leukoencephalopathy with spheroids, have recently been interpreted as variants of the same disease, adult-onset leukoencephalopathy with spheroids and pigmented glia (ALSP). We report a sporadic case of a 56-year-old male with ALSP presenting as frontotemporal dementia behavioral variant (FTD-bv). He had a history of depression and developed socially inappropriate behaviors consistent with FTD-bv. His first neurological exam was normal, but he developed new symptoms in the next 1...

Seizures in cerebral X-linked adrenoleucodystrophy (X-ALD) more frequently occur in the early-onset compared to the late-onset form. Here we describe an adult in whom X-ALD deteriorated after head trauma and who developed epilepsy with progression of X-ALD. In a 50 year-old Caucasian male, cerebral X-ALD was diagnosed upon progressive gait disturbance, intellectual decline, elevated very-long chain fatty acids in the serum or leucocytes, cerebral MRI, showing extensive, symmetric, homogenous demyelination in the parieto-occipital areas, the splenium corporis callosum, the thalamus, the crura cerebri, the brain stem, and the pedunculi cerebelli, and the deletion c...

Epilepsy is common in patients with brain tumors. Patients presenting seizures as the first sign of a malignant glioma are at increased risk of recurrent seizures despite treatment with antiepileptic drugs. However, little is known about the incidence of epilepsy in the last stage of disease and in the end-of-life phase of brain tumor patients. We retrospectively analyzed the incidence of seizures in the last months of life in a series of patients affected by high-grade gliomas who were assisted at home during the whole course of the disease until death...